Clinical utility gene card for: Congenital generalized lipodystrophy

European Journal of Human Genetics

Volumn 24, Issue 11, 2016, Pages

  Jéru, Isabelle ^a,b,c   Vatier, Camille ^a,b,c   Araujo Vilar, David ^d   Vigouroux, Corinne ^a,b,c   Lascols, Olivier ^a,b,c  

^a HÔPITAL SAINT ANTOINE   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c Institute of Cardiometabolism and Nutrition   (France)

^d UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN FOS; 2-ACYLGLYCEROPHOSPHATE ACYLTRANSFERASE; ACYLTRANSFERASE; BSCL2 PROTEIN, HUMAN; CAV1 PROTEIN, HUMAN; CAVEOLIN 1; GUANINE NUCLEOTIDE BINDING PROTEIN GAMMA SUBUNIT; PTRF PROTEIN, HUMAN; RNA BINDING PROTEIN;

AGPAT2 GENE; ARTICLE; BSCL2 GENE; CAV1 GENE; CONGENITAL GENERALIZED LIPODYSTROPHY; COST EFFECTIVENESS ANALYSIS; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; FAMILY HISTORY; FOS GENE; GENE; GENE FREQUENCY; GENETIC RISK; GENETIC SCREENING; GENETIC VARIATION; GENOTYPE; HUMAN; INCIDENCE; MEDICAL TERMINOLOGY; MUTATIONAL ANALYSIS; NEGATIVE CLINICAL PREDICTIVE VALUE; NEXT GENERATION SEQUENCING; POLYMERASE CHAIN REACTION; POSITIVE CLINICAL PREDICTIVE VALUE; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; PROMOTER REGION; PTRF GENE; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION PROCESS; GENETICS; MOLECULAR PATHOLOGY; MUTATION;

ACYLTRANSFERASES; CAVEOLIN 1; GENETIC TESTING; GENOTYPE; GTP-BINDING PROTEIN GAMMA SUBUNITS; HUMANS; LIPODYSTROPHY, CONGENITAL GENERALIZED; MUTATION; PATHOLOGY, MOLECULAR; RISK ASSESSMENT; RNA-BINDING PROTEINS; SENSITIVITY AND SPECIFICITY;

EID: 84969165395     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.53     Document Type: Article

References (15)

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